scholarly journals The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32

1998 ◽  
Vol 43 (1) ◽  
pp. 32-36 ◽  
Author(s):  
M. Fujimoto ◽  
Piranit Nik Kantaputra ◽  
Shiro Ikegawa ◽  
Yoshimitsu Fukushima ◽  
Shin-ichi Sonta ◽  
...  
Keyword(s):  
Mesomelic Dysplasia

A case of mesomelic dysplasia Kantaputra type – new findings and a new diagnostic approach

2008 ◽  
Vol 17 (5) ◽  
pp. 271-276 ◽  
Author(s):  
Karolina Anna Siwicka ◽  
Hiroshi Kitoh ◽  
Masaki Nishiyama ◽  
Naoki Ishiguro
Keyword(s):  
Diagnostic Approach ◽  
Mesomelic Dysplasia ◽  
New Findings

A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1

2010 ◽  
Vol 47 (9) ◽  
pp. 638-639 ◽  
Author(s):  
T.-J. Cho ◽  
O.-H. Kim ◽  
I. H. Choi ◽  
G. Nishimura ◽  
A. Superti-Furga ◽  
...  
Keyword(s):  
Gene Cluster ◽  
Mesomelic Dysplasia ◽  
Hoxd Gene

scholarly journals Werner mesomelic dysplasia

2018 ◽  
Vol 6 (4) ◽  
pp. 92-97
Author(s):  
Evgeniia A. Kochenova ◽  
Olga E. Agranovich ◽  
Svetlana I. Trofimova ◽  
Anna P. Nikitina
Keyword(s):  
Clinical Case ◽  
Regulatory Element ◽  
Molecular Genetic ◽  
Hip Dislocation ◽  
Preaxial Polydactyly ◽  
Mesomelic Dysplasia ◽  
Dominant Disease ◽  
Genetic Examination ◽  
Hands And Feet ◽  
Nasal Defects

Introduction. The term “mesomelic dysplasia” refers to a group of disorders wherein limb shortening is most pronounced in the middle segment (forearm and leg) of the extremities. Werner mesomelic dysplasia is characterized by absence or hypoplasia of the tibia, preaxial polysyndactyly on the hands and feet, as well as by triphalangeal thumbs, absence of a patella, and fibular bone dislocation. Molecular genetic causes of the disease are mutations at position 404 of the regulatory element (ZRS) of the SHH gene in the LMBR1 gene (OMIM 188740). Clinical case. A girl with triphalangeal thumbs and polydactyly of the hands, right hip dislocation, tibia hypoplasia, fibular dislocation on both sides, and preaxial polydactyly of the feet was examined and treated at the age of 1 year. Considering the clinical and radiological picture, the girl was diagnosed with Werner mesomelic dysplasia. To verify the disease, a molecular genetic examination of the child was performed. A variant of replacement of 230 T > C in the regulatory element of the ZRS of the SHH gene was discovered in the literature. Discussion. Differential diagnosis can be made with Laurin-Sandrow syndrome, which is characterized by doubling of the ulna and fibula with the absence of the radius and tibia and preaxial polydactyly/syndactyly of the hands and feet. The presence of nasal defects (particularly involving the columella) distinguishes this condition from other syndromes, which was not shown in this clinical observation. Conclusion. We report the clinical case of an autosomal-dominant disease, Werner mesomelic dysplasia, which is a rare pathology with a typical clinical picture combined with congenital hip dislocation, which was not previously described. The molecular genetic examination confirms the presence of a pathogenic variant of the ZRS element of the SHH gene, which causes the development of Werner’s mesomelic dysplasia, but the mutation variant was not registered before, which requires an additional examination of the child’s relatives.

Mesomelic Dysplasia, Werner Type

2014 ◽  
pp. 251-253
Author(s):  
Stefan Mundlos ◽  
Denise Horn
Keyword(s):  
Mesomelic Dysplasia

Mesomelic Dysplasia

1978 ◽  
pp. 73-77 ◽  
Author(s):  
Bryan J. Cremin ◽  
Peter Beighton
Keyword(s):  
Mesomelic Dysplasia

Metaphyseal chondrodysplasia, upper limb mesomelia and normal height (mesomelic dysplasia camera type): Second report in a Mexican patient

2008 ◽  
Vol 146A (4) ◽  
pp. 479-483
Author(s):  
L.E. Becerra-Solano ◽  
G. Castañeda-Cisneros ◽  
R. Bañuelos-Acosta ◽  
J. Sánchez-Corona ◽  
J.E. García-Ortiz
Keyword(s):  
Upper Limb ◽  
Normal Height ◽  
Metaphyseal Chondrodysplasia ◽  
Mesomelic Dysplasia ◽  
Mexican Patient

New mesomelic dysplasia with absent fibulae and triangular tibiae

2000 ◽  
Vol 94 (1) ◽  
pp. 59-63 ◽  
Author(s):  
Ravi Savarirayan ◽  
Val�rie Cormier-Daire ◽  
Cynthia J. Curry ◽  
Marcus B. Nashelsky ◽  
Valerie Rappaport ◽  
...  
Keyword(s):  
Mesomelic Dysplasia

Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: Follow-up study documents progressive clinical course

2009 ◽  
Vol 149A (10) ◽  
pp. 2220-2225 ◽  
Author(s):  
Bertrand Isidor ◽  
Antoine Hamel ◽  
Frank Plasschaert ◽  
Lieve Claus ◽  
Jacques-Marie Mercier ◽  
...  
Keyword(s):  
Clinical Course ◽  
Follow Up Study ◽  
Mesomelic Dysplasia

scholarly journals Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

2015 ◽  
Vol 52 (7) ◽  
pp. 476-483 ◽  
Author(s):  
Ricarda Flöttmann ◽  
Johannes Wagner ◽  
Karolina Kobus ◽  
Cynthia J Curry ◽  
Ravi Savarirayan ◽  
...  
Keyword(s):  
Mesomelic Dysplasia
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